Linked Data
ClinVar Variation Id:
710
ClinVar RCV Id:
RCV000000745
dbSNP Id:
rs118204445
PubMed:
PMID:9385378
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88842745A>C , CM000678.2:g.88842745A>C | GRCh38 |
| NC_000016.9:g.88909153A>C , CM000678.1:g.88909153A>C | GRCh37 |
| NC_000016.8:g.87436654A>C | NCBI36 |
| NG_008667.1:g.19222T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268695.10:c.205T>G MANE Select | ENSP00000268695.5:p.Phe69Val | |
| ENST00000268695.9:c.205T>G | ENSP00000268695.5:p.Phe69Val | |
| ENST00000562593.5:n.2880T>G | ||
| ENST00000562831.1:c.29-774T>G | ENSP00000455174.1:n.29-774T>G | |
| ENST00000565364.1:n.340T>G | ||
| ENST00000567525.5:c.70-774T>G | ENSP00000454484.1:n.70-774T>G | |
| ENST00000568613.5:c.324T>G | ENSP00000457921.1:n.324T>G | |
| NM_000512.4:c.205T>G | NP_000503.1:p.Phe69Val | |
| XM_005256301.2:c.205T>G | XP_005256358.1:p.Phe69Val | |
| XM_005256302.1:c.223T>G | XP_005256359.1:p.Phe75Val | |
| XM_011522982.1:c.223T>G | XP_011521284.1:p.Phe75Val | |
| XM_011522984.1:c.223T>G | XP_011521286.1:p.Phe75Val | |
| NM_001323543.1:c.-311-774T>G | NP_001310472.1:n.-311-774T>G | |
| NM_001323544.1:c.223T>G | NP_001310473.1:p.Phe75Val | |
| XM_005256301.3:c.205T>G | XP_005256358.1:p.Phe69Val | |
| XM_011522982.2:c.223T>G | XP_011521284.1:p.Phe75Val | |
| XM_017023111.2:c.223T>G | XP_016878600.1:p.Phe75Val | |
| XM_017023112.2:c.223T>G | XP_016878601.1:p.Phe75Val | |
| XM_017023113.1:c.-311-774T>G | XP_016878602.1:n.-311-774T>G | |
| NM_000512.5:c.205T>G MANE Select | NP_000503.1:p.Phe69Val | |
| NM_001323543.2:c.-311-774T>G | NP_001310472.1:n.-311-774T>G | |
| NM_001323544.2:c.223T>G | NP_001310473.1:p.Phe75Val |